Acute Myeloid Leukemia
Oncology section
Acute myeloid leukemia (AML) is a type of cancer that originates in the bone marrow, affecting the myeloid line of blood cells. It is characterized by the rapid proliferation of abnormal myeloid precursor cells, known as blasts, which
interfere with the production of normal blood cells. AML is a heterogeneous disease with various subtypes, each characterized by different genetic and molecular abnormalities.
ABOUT AML
Understanding Sympthomps
Diagnosis of AML
Diagnosis of AML is typically made through blood tests, bone marrow aspiration and biopsy, and cytogenetic and molecular testing. Blood tests may reveal abnormalities such as anemia, thrombocytopenia, and leukocytosis or leukopenia.
Bone marrow examination allows for the identification of abnormal blast cells and assessment of cytogenetic and molecular abnormalities that may influence prognosis and treatment decisions.
Acute myeloid leukemia (AML) can be classified into different types or subtypes based on various factors, including the presence of specific genetic or molecular abnormalities, the lineage of the leukemia cells, and the patient's clinical characteristics. Staging in AML refers to the extent of the disease and helps guide treatment decisions.
Subtypes of AML
Cytogenetic Subtypes
AML can be classified based on cytogenetic abnormalities observed in leukemia cells. Common cytogenetic subtypes include:
- AML with favorable cytogenetics: Examples include t(8;21), inv(16), and t(15;17), which are associated with better treatment outcomes.
- AML with intermediate cytogenetics: This group includes AML cases with normal cytogenetics or other less favorable cytogenetic abnormalities.
- AML with adverse cytogenetics: Examples include complex karyotype, monosomal karyotype, and specific chromosomal abnormalities associated with poor prognosis.
Molecular Subtypes
Advances in molecular testing have led to the identification of specific gene mutations and molecular abnormalities in AML. Common molecular subtypes include:
- AML with mutations in genes such as FLT3, NPM1, CEBPA, and IDH1/IDH2, which can influence prognosis and treatment decisions.
- AML with myelodysplasia-related changes (AML-MRC), characterized by the presence of specific genetic abnormalities associated with myelodysplastic syndromes (MDS).
- AML not otherwise specified (AML-NOS), which includes cases that do not fit into specific cytogenetic or molecular subtypes.
Staging of AML
FAB Classification divides AML into subtypes based on cell morphology, ranging from M0 to M7. WHO Classification incorporates genetic, molecular, and immunophenotypic data, categorizing AML into various subtypes. AML is risk-stratified based on age, cytogenetics, and molecular markers to guide treatment decisions.
Minimal Residual Disease (MRD) assessment helps predict treatment response and disease recurrence risk. Accurate classification aids in treatment decisions, prognosis prediction, and therapy monitoring, with ongoing research enhancing our understanding of AML's genetic basis and therapeutic targets.
STAGING OF AML
Overall, the classification and staging of AML are important for guiding treatment decisions, predicting prognosis, and monitoring response to therapy. Advances in cytogenetic and molecular testing have improved our ability to accurately classify AML and tailor treatment approaches to individual patients. Ongoing research continues to refine our understanding of the genetic and molecular underpinnings
of AML and identify novel therapeutic targets.Acute myeloid leukemia (AML) involves both germline and somatic genetic alterations that contribute to the development and progression of the disease. Germline mutations are inherited genetic changes present in all cells of an individual's body, while somatic mutations are acquired alterations that occur specifically in the leukemia cells.
Contrasting GERMLINE and Somatic Mutations
Germline Genes:
Germline mutations in the GATA2 gene are associated with familial AML-MDS syndrome, a condition characterized by an increased risk of developing AML, myelodysplastic syndromes (MDS), and other hematological disorders.
Somatic Genes:
